Canonical Allele Identifier: CA581928980
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1253892388
gnomAD v2: 8-42694117-A-C
gnomAD v3: 8-42838974-A-C
gnomAD v4: 8-42838974-A-C
MyVariant Identifiers: chr8:g.42694117A>C (hg19) chr8:g.42838974A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838974A>C , CM000670.2:g.42838974A>C GRCh38
NC_000008.10:g.42694117A>C , CM000670.1:g.42694117A>C GRCh37
NC_000008.9:g.42813274A>C NCBI36
NG_011837.1:g.9358T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+212T>G MANE Select ENSP00000254250.3:n.267+212T>G
ENST00000345117.2:c.72-638T>G ENSP00000344966.2:n.72-638T>G
ENST00000529779.1:c.267+212T>G ENSP00000433912.1:n.267+212T>G
NM_018105.2:c.267+212T>G NP_060575.1:n.267+212T>G
NM_199003.1:c.72-638T>G NP_945354.1:n.72-638T>G
NM_018105.3:c.267+212T>G MANE Select NP_060575.1:n.267+212T>G
NM_199003.2:c.72-638T>G NP_945354.1:n.72-638T>G
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